Mutagenetix > Incidental Mutation

Incidental Mutation 'R3421:D930048N14Rik'

267052

Institutional Source

Beutler Lab

Gene Symbol

D930048N14Rik

Ensembl Gene

ENSMUSG00000052563

Gene Name

RIKEN cDNA D930048N14 gene

Synonyms

MMRRC Submission

040639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R3421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51541781-51548508 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 51545785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 226 (*226R)

Ref Sequence

ENSEMBL: ENSMUSP00000069562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000064493] [ENSMUST00000117859] [ENSMUST00000142721] [ENSMUST00000156835]

AlphaFold

A2AA67

Predicted Effect

probably benign
Transcript: ENSMUST00000001080

SMART Domains

Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053

Domain	Start	End	E-Value	Type
low complexity region	176	207	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
coiled coil region	295	334	N/A	INTRINSIC
Pfam:Fez1	359	442	2.3e-21	PFAM
Pfam:Fez1	433	519	4e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000064493
AA Change: *226R

SMART Domains

Protein: ENSMUSP00000069562
Gene: ENSMUSG00000052563
AA Change: *226R

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117859

SMART Domains

Protein: ENSMUSP00000113687
Gene: ENSMUSG00000052563

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142721

Predicted Effect

probably benign
Transcript: ENSMUST00000156835

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,350,697 (GRCm39)		probably null	Het
Agbl3	A	G	6: 34,770,900 (GRCm39)	T132A	probably benign	Het
Amn1	A	T	6: 149,070,950 (GRCm39)	L196*	probably null	Het
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Atp7b	C	T	8: 22,518,686 (GRCm39)	D51N	probably damaging	Het
Brip1	A	T	11: 86,043,495 (GRCm39)	Y356*	probably null	Het
Ccdc40	C	T	11: 119,125,605 (GRCm39)	P348L	probably benign	Het
Chrdl2	G	A	7: 99,673,075 (GRCm39)	C9Y	probably damaging	Het
Chst4	T	C	8: 110,757,038 (GRCm39)	D192G	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Dmgdh	T	C	13: 93,847,869 (GRCm39)	V522A	probably benign	Het
Dtx2	T	A	5: 136,041,332 (GRCm39)	Y246N	probably damaging	Het
Gtf2ird1	T	A	5: 134,417,354 (GRCm39)	M518L	probably benign	Het
Hoxc6	T	A	15: 102,919,327 (GRCm39)	W188R	probably damaging	Het
Igfn1	C	T	1: 135,904,655 (GRCm39)		probably null	Het
Kcnip1	A	G	11: 33,595,594 (GRCm39)	V43A	probably damaging	Het
Kif4-ps	A	T	12: 101,113,230 (GRCm39)	E453V	probably damaging	Het
Kifap3	T	A	1: 163,621,595 (GRCm39)	I81N	probably damaging	Het
Mgat4d	T	C	8: 84,084,772 (GRCm39)	S172P	probably damaging	Het
Mr1	T	C	1: 155,013,337 (GRCm39)	Y80C	probably damaging	Het
Nuak2	A	G	1: 132,259,818 (GRCm39)	D532G	probably benign	Het
Odad2	T	C	18: 7,223,523 (GRCm39)		probably benign	Het
Or1e1	A	G	11: 73,245,460 (GRCm39)	N294D	probably damaging	Het
Or4c123	C	G	2: 89,126,897 (GRCm39)	S239T	probably benign	Het
Or4g7	A	G	2: 111,309,297 (GRCm39)	H56R	probably benign	Het
Or4k15b	T	C	14: 50,271,997 (GRCm39)	T288A	possibly damaging	Het
Or8d1	A	G	9: 38,766,621 (GRCm39)	K88E	possibly damaging	Het
Pik3cg	A	T	12: 32,254,738 (GRCm39)	F416L	probably damaging	Het
Prex1	A	G	2: 166,459,774 (GRCm39)	V124A	probably damaging	Het
Psmb2	T	C	4: 126,571,630 (GRCm39)	M28T	probably damaging	Het
Ric1	T	C	19: 29,544,990 (GRCm39)	I230T	probably damaging	Het
Saysd1	T	A	14: 20,132,994 (GRCm39)	K54N	probably benign	Het
Slc25a17	C	T	15: 81,244,901 (GRCm39)	V11I	probably benign	Het
Slc5a4a	T	C	10: 76,012,407 (GRCm39)	V359A	probably benign	Het
Slc7a3	T	A	X: 100,124,481 (GRCm39)		probably benign	Het
Slco1a5	A	T	6: 142,213,964 (GRCm39)	D52E	possibly damaging	Het
Soat2	T	C	15: 102,065,244 (GRCm39)		probably benign	Het
Tafa1	C	A	6: 96,626,099 (GRCm39)	D112E	probably damaging	Het
Telo2	C	T	17: 25,329,726 (GRCm39)	R262Q	probably damaging	Het
Zdhhc14	T	A	17: 5,803,366 (GRCm39)	*490R	probably null	Het
Zfp217	A	G	2: 169,961,937 (GRCm39)	F130S	possibly damaging	Het
Zfp712	C	T	13: 67,200,456 (GRCm39)	V10M	probably damaging	Het

Other mutations in D930048N14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01090:D930048N14Rik	APN	11	51,544,610 (GRCm39)	unclassified	probably benign
IGL01347:D930048N14Rik	APN	11	51,545,615 (GRCm39)	unclassified	probably benign
IGL01419:D930048N14Rik	APN	11	51,545,603 (GRCm39)	unclassified	probably benign
IGL02696:D930048N14Rik	APN	11	51,544,821 (GRCm39)	unclassified	probably benign
R0513:D930048N14Rik	UTSW	11	51,545,755 (GRCm39)	unclassified	probably benign
R1465:D930048N14Rik	UTSW	11	51,545,740 (GRCm39)	unclassified	probably benign
R1465:D930048N14Rik	UTSW	11	51,545,740 (GRCm39)	unclassified	probably benign
R1649:D930048N14Rik	UTSW	11	51,545,663 (GRCm39)	unclassified	probably benign
R1852:D930048N14Rik	UTSW	11	51,544,692 (GRCm39)	unclassified	probably benign
R3422:D930048N14Rik	UTSW	11	51,545,785 (GRCm39)	makesense	probably null
R4210:D930048N14Rik	UTSW	11	51,545,632 (GRCm39)	unclassified	probably benign
R5701:D930048N14Rik	UTSW	11	51,544,556 (GRCm39)	splice site	probably null
R6656:D930048N14Rik	UTSW	11	51,544,576 (GRCm39)	unclassified	probably benign
R8431:D930048N14Rik	UTSW	11	51,541,946 (GRCm39)	frame shift	probably null
R8505:D930048N14Rik	UTSW	11	51,541,946 (GRCm39)	frame shift	probably null
R8758:D930048N14Rik	UTSW	11	51,544,568 (GRCm39)	missense	unknown
R9061:D930048N14Rik	UTSW	11	51,545,734 (GRCm39)	missense	unknown
R9164:D930048N14Rik	UTSW	11	51,545,609 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGAACGAGACTAGATTCGTGC -3'
(R):5'- GGCTGTTGCAACTGTCAAGAG -3'

Sequencing Primer
(F):5'- ACTAGATTCGTGCAGGCAGCTG -3'
(R):5'- CCAGAGAGCGGATGAATTCCTATTC -3'

Posted On

2015-02-18